Publications:

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Genetic variants in HFE are associated with non-alcoholic fatty liver disease in lean individuals.

Jhep Reports : Innovation In Hepatology

Sun, Zewen Z; Pan, Xingchen X; Tian, Aowen A; Surakka, Ida I; Wang, Tao T; Jiao, Xu X; He, Shanshan S; Song, Jinfang J; Tian, Xin X; Tong, Dan D; Wen, Jianping J; Zhang, Yonggang Y; Liu, Wanqing W; Chen, Peng P

Publication Date: 2023-07

Variant appearance in text: rs2642438

PubMed Link: 37235137

Variant Present in the following documents:

• mmc1.pdf
• mmc4.pdf

View BVdb publication page

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Hepatocyte mARC1 promotes fatty liver disease.

Jhep Reports : Innovation In Hepatology

Lewis, Lara C LC; Chen, Lingyan L; Hameed, L Shahul LS; Kitchen, Robert R RR; Maroteau, Cyrielle C; Nagarajan, Shilpa R SR; Norlin, Jenny J; Daly, Charlotte E CE; Szczerbinska, Iwona I; Hjuler, Sara Toftegaard ST; Patel, Rahul R; Livingstone, Eilidh J EJ; Durrant, Tom N TN; Wondimu, Elisabeth E; BasuRay, Soumik S; Chandran, Anandhakumar A; Lee, Wan-Hung WH; Hu, Sile S; Gilboa, Barak B; Grandi, Megan E ME; Toledo, Enrique M EM; Erikat, Abdullah H A AHA; Hodson, Leanne L; Haynes, William G WG; Pursell, Natalie W NW; Coppieters, Ken K; Fleckner, Jan J; Howson, Joanna M M JMM; Andersen, Birgitte B; Ruby, Maxwell A MA

Publication Date: 2023-05

Variant appearance in text: rs2642438

PubMed Link: 37122688

Variant Present in the following documents:

• Main text
• main.pdf
• mmc5.pdf

View BVdb publication page

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From Non-Alcoholic Fatty Liver to Hepatocellular Carcinoma: A Story of (Mal)Adapted Mitochondria.

Biology

Amorim, Ricardo R; Magalhães, Carina C CC; Borges, Fernanda F; Oliveira, Paulo J PJ; Teixeira, José J

Publication Date: 2023-04-14

Variant appearance in text: rs2642438

PubMed Link: 37106795

Variant Present in the following documents:

• Main text
• biology-12-00595.pdf

View BVdb publication page

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Molecular Mechanism of Chronic Viral and Non-Viral Liver Diseases.

International Journal Of Molecular Sciences

Kanda, Tatsuo T

Publication Date: 2023-03-25

Variant appearance in text: rs2642438

PubMed Link: 37047190

Variant Present in the following documents:

• Main text
• ijms-24-06218.pdf

View BVdb publication page

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Glutathione: Pharmacological aspects and implications for clinical use in non-alcoholic fatty liver disease.

Frontiers In Medicine

Santacroce, Giovanni G; Gentile, Antonella A; Soriano, Simone S; Novelli, Andrea A; Lenti, Marco Vincenzo MV; Di Sabatino, Antonio A

Publication Date: 2023

Variant appearance in text: rs2642438

PubMed Link: 37035339

Variant Present in the following documents:

• Main text
• fmed-10-1124275.pdf

View BVdb publication page

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Workflow enabling deepscale immunopeptidome, proteome, ubiquitylome, phosphoproteome, and acetylome analyses of sample-limited tissues.

Nature Communications

Abelin, Jennifer G JG; Bergstrom, Erik J EJ; Rivera, Keith D KD; Taylor, Hannah B HB; Klaeger, Susan S; Xu, Charles C; Verzani, Eva K EK; Jackson White, C C; Woldemichael, Hilina B HB; Virshup, Maya M; Olive, Meagan E ME; Maynard, Myranda M; Vartany, Stephanie A SA; Allen, Joseph D JD; Phulphagar, Kshiti K; Harry Kane, M M; Rachimi, Suzanna S; Mani, D R DR; Gillette, Michael A MA; Satpathy, Shankha S; Clauser, Karl R KR; Udeshi, Namrata D ND; Carr, Steven A SA

Publication Date: 2023-04-03

Variant appearance in text: MTARC1: T165A

PubMed Link: 37012232

Variant Present in the following documents:

• 41467_2023_37547_MOESM12_ESM.xlsx, sheet 2

View BVdb publication page

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Expanding the prostate cancer cell line repertoire with ACRJ-PC28, an AR-negative neuroendocrine cell line derived from an African-Caribbean patient.

Cancer Research Communications

Valentine, Henkel H; Aiken, William W; Morrison, Belinda B; Zhao, Ziran Z; Fowle, Holly H; Wasserman, Jason S JS; Thompson, Elon E; Chin, Warren W; Young, Mark M; Clarke, Shannique S; Gibbs, Denise D; Harrison, Sharon S; McLaughlin, Wayne W; Kwok, Tim T; Jin, Fang F; Campbell, Kerry S KS; Horvath, Anelia A; Thompson, Rory R; Lee, Norman H NH; Zhou, Yan Y; Graña, Xavier X; Ragin, Camille C; Badal, Simone S

Publication Date: 2022-11

Variant appearance in text: MARC1: T165A; rs2642438

PubMed Link: 36643868

Variant Present in the following documents:

• crc-22-0245-s07.xlsx, sheet 1

View BVdb publication page

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Association of Inherited Genetic Factors With Drug-Induced Hepatic Damage Among Children With Acute Lymphoblastic Leukemia.

Jama Network Open

Yang, Wenjian W; Karol, Seth E SE; Hoshitsuki, Keito K; Lee, Shawn S; Larsen, Eric C EC; Winick, Naomi N; Carroll, William L WL; Loh, Mignon L ML; Raetz, Elizabeth A EA; Hunger, Stephen P SP; Winter, Stuart S SS; Dunsmore, Kimberly P KP; Devidas, Meenakshi M; Relling, Mary V MV; Yang, Jun J JJ

Publication Date: 2022-12-01

Variant appearance in text: rs2642438

PubMed Link: 36580335

Variant Present in the following documents:

• jamanetwopen-e2248803-s001.pdf

View BVdb publication page

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MTARC1 and HSD17B13 Variants Have Protective Effects on Non-Alcoholic Fatty Liver Disease in Patients Undergoing Bariatric Surgery.

International Journal Of Molecular Sciences

Kalinowski, Piotr P; Smyk, Wiktor W; Nowosad, Małgorzata M; Paluszkiewicz, Rafał R; Michałowski, Łukasz Ł; Ziarkiewicz-Wróblewska, Bogna B; Weber, Susanne N SN; Milkiewicz, Piotr P; Lammert, Frank F; Zieniewicz, Krzysztof K; Krawczyk, Marcin M

Publication Date: 2022-12-13

Variant appearance in text: rs2642438

PubMed Link: 36555467

Variant Present in the following documents:

• Main text
• ijms-23-15825.pdf

View BVdb publication page

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Exome-wide association analysis of CT imaging-derived hepatic fat in a medical biobank.

Cell Reports. Medicine

Park, Joseph J; MacLean, Matthew T MT; Lucas, Anastasia M AM; Torigian, Drew A DA; Schneider, Carolin V CV; Cherlin, Tess T; Xiao, Brenda B; Miller, Jason E JE; Bradford, Yuki Y; Judy, Renae L RL; , ; Verma, Anurag A; Damrauer, Scott M SM; Ritchie, Marylyn D MD; Witschey, Walter R WR; Rader, Daniel J DJ

Publication Date: 2022-12-06

Variant appearance in text: MTARC1: T165A

PubMed Link: 36513072

Variant Present in the following documents:

• Main text
• main.pdf
• mmc8.pdf
• mmc3.xlsx, sheet 2

View BVdb publication page

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Establishment and characterization of a new mantle cell lymphoma cell line with a NOTCH2 mutation, Arbo.

Ejhaem

Safa, Firas F; Rasmussen, Terri T; Lobelle-Rich, Patricia P; Collier, Stephanie S; Milligan, Nicholas N; Schmeig, John J; Schmid, Janet J; Wiewiorowski, Carol C; Totaro, Denise D; Brown, Theresa C TC; Satyavarapu, Ishwarya I; Badoo, Melody M; Ungerleider, Nathan N; Flemington, Erik K EK; Safah, Hana H; Saba, Nakhle S NS

Publication Date: 2022-11

Variant appearance in text: rs2642438

PubMed Link: 36467812

Variant Present in the following documents:

• JHA2-3-1326-s001.xlsx, sheet 1

View BVdb publication page

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Update on genetics and epigenetics in metabolic associated fatty liver disease.

Therapeutic Advances In Endocrinology And Metabolism

Zhu, Xiaopeng X; Xia, Mingfeng M; Gao, Xin X

Publication Date: 2022

Variant appearance in text: rs2642438

PubMed Link: 36325500

Variant Present in the following documents:

• Main text
• 10.1177_20420188221132138.pdf

View BVdb publication page

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Multiomics study of nonalcoholic fatty liver disease.

Nature Genetics

Sveinbjornsson, Gardar G; Ulfarsson, Magnus O MO; Thorolfsdottir, Rosa B RB; Jonsson, Benedikt A BA; Einarsson, Eythor E; Gunnlaugsson, Gylfi G; Rognvaldsson, Solvi S; Arnar, David O DO; Baldvinsson, Magnus M; Bjarnason, Ragnar G RG; , ; Eiriksdottir, Thjodbjorg T; Erikstrup, Christian C; Ferkingstad, Egil E; Halldorsson, Gisli H GH; Helgason, Hannes H; Helgadottir, Anna A; Hindhede, Lotte L; Hjorleifsson, Grimur G; Jones, David D; Knowlton, Kirk U KU; Lund, Sigrun H SH; Melsted, Pall P; Norland, Kristjan K; Olafsson, Isleifur I; Olafsson, Sigurdur S; Oskarsson, Gudjon R GR; Ostrowski, Sisse Rye SR; Pedersen, Ole Birger OB; Snaebjarnarson, Auðunn S AS; Sigurdsson, Emil E; Steinthorsdottir, Valgerdur V; Schwinn, Michael M; Thorgeirsson, Gudmundur G; Thorleifsson, Gudmar G; Jonsdottir, Ingileif I; Bundgaard, Henning H; Nadauld, Lincoln L; Bjornsson, Einar S ES; Rulifson, Ingrid C IC; Rafnar, Thorunn T; Norddahl, Gudmundur L GL; Thorsteinsdottir, Unnur U; Sulem, Patrick P; Gudbjartsson, Daniel F DF; Holm, Hilma H; Stefansson, Kari K

Publication Date: 2022-11

Variant appearance in text: MTARC1: Thr165Ala; rs2642438

PubMed Link: 36280732

Variant Present in the following documents:

• Main text
• 41588_2022_1199_MOESM4_ESM.xlsx, sheet 1
• 41588_2022_Article_1199.pdf

View BVdb publication page

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Beneficial effects of mifepristone treatment in breast cancer patients selected by the progesterone receptor isoform ratio: Results from the MIPRA trial.

Clinical Cancer Research : An Official Journal Of The American Association For Cancer Research

Elía, Andrés A; Saldain, Leo L; Vanzulli, Silvia I SI; Helguero, Luisa A LA; Lamb, Caroline A CA; Fabris, Victoria V; Pataccini, Gabriela G; Martínez-Vazquez, Paula P; Burruchaga, Javier J; Caillet-Bois, Ines I; Spengler, Eunice E; Acosta Haab, Gabriela G; Liguori, Marcos M; Castets, Alejandra A; Lovisi, Silvia S; Abascal, María F MF; Novaro, Virginia V; Sánchez, Jana J; Muñoz, Javier J; Belizán, Jose M JM; Abba, Martín C MC; Gass, Hugo H; Rojas, Paola P; Lanari, Claudia C

Publication Date: 2022-10-21

Variant appearance in text: MARC1: 493A>G; rs2642438

PubMed Link: 36269797

Variant Present in the following documents:

• ccr-22-2060_supplementary_table_s5_suppts5.xlsx, sheet 1

View BVdb publication page

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Next-generation whole exome sequencing to delineate the genetic basis of primary congenital glaucoma.

Scientific Reports

Rauf, Bushra B; Khan, Shahid Y SY; Jiao, Xiaodong X; Irum, Bushra B; Ashfaq, Ramla R; Zehra, Mubashra M; Khan, Asma A AA; Naeem, Muhammad Asif MA; Shahzad, Mohsin M; Riazuddin, Sheikh S; Hejtmancik, J Fielding JF; Riazuddin, S Amer SA

Publication Date: 2022-10-14

Variant appearance in text: MTARC1: T165A

PubMed Link: 36241656

Variant Present in the following documents:

• 41598_2022_20939_MOESM15_ESM.xlsx, sheet 2
• 41598_2022_20939_MOESM10_ESM.xlsx, sheet 2
• 41598_2022_20939_MOESM6_ESM.xlsx, sheet 2
• 41598_2022_20939_MOESM11_ESM.xlsx, sheet 2
• 41598_2022_20939_MOESM4_ESM.xlsx, sheet 2
• 41598_2022_20939_MOESM2_ESM.xlsx, sheet 2
• 41598_2022_20939_MOESM7_ESM.xlsx, sheet 2
• 41598_2022_20939_MOESM14_ESM.xlsx, sheet 2
• 41598_2022_20939_MOESM5_ESM.xlsx, sheet 2
• 41598_2022_20939_MOESM8_ESM.xlsx, sheet 2
• 41598_2022_20939_MOESM9_ESM.xlsx, sheet 2
• 41598_2022_20939_MOESM3_ESM.xlsx, sheet 2

View BVdb publication page

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Molecular Changes in Relation to Alcohol Consumption and Hepatocellular Carcinoma.

International Journal Of Molecular Sciences

Sasaki-Tanaka, Reina R; Ray, Ranjit R; Moriyama, Mitsuhiko M; Ray, Ratna B RB; Kanda, Tatsuo T

Publication Date: 2022-08-26

Variant appearance in text: rs2642438

PubMed Link: 36077080

Variant Present in the following documents:

• Main text
• ijms-23-09679.pdf

View BVdb publication page

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A genomic deletion encompassing CRYBB2-CRYBB2P1 is responsible for autosomal recessive congenital cataracts.

Human Genome Variation

Irum, Bushra B; Kabir, Firoz F; Shoshany, Nadav N; Khan, Shahid Y SY; Rauf, Bushra B; Naeem, Muhammad Asif MA; Qaiser, Tanveer A TA; Riazuddin, Sheikh S; Hejtmancik, J Fielding JF; Riazuddin, S Amer SA

Publication Date: 2022-09-08

Variant appearance in text: MTARC1: T165A; rs2642438

PubMed Link: 36075891

Variant Present in the following documents:

• 41439_2022_208_MOESM4_ESM.xlsx, sheet 2
• 41439_2022_208_MOESM3_ESM.xlsx, sheet 2
• 41439_2022_208_MOESM5_ESM.xlsx, sheet 2

View BVdb publication page

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A minority of somatically mutated genes in pre-existing fatty liver disease have prognostic importance in the development of NAFLD.

Liver International : Official Journal Of The International Association For The Study Of The Liver

Mann, Jake P JP; Hoare, Matthew M

Publication Date: 2022-08

Variant appearance in text: rs2642438

PubMed Link: 35474605

Variant Present in the following documents:

• Main text
• LIV-42-1823.pdf

View BVdb publication page

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Variants in mitochondrial amidoxime reducing component 1 and hydroxysteroid 17-beta dehydrogenase 13 reduce severity of nonalcoholic fatty liver disease in children and suppress fibrotic pathways through distinct mechanisms.

Hepatology Communications

Hudert, Christian A CA; Adams, Leon A LA; Alisi, Anna A; Anstee, Quentin M QM; Crudele, Annalisa A; Draijer, Laura G LG; , ; Furse, Samuel S; Hengstler, Jan G JG; Jenkins, Benjamin B; Karnebeek, Kylie K; Kelly, Deirdre A DA; Koot, Bart G BG; Koulman, Albert A; Meierhofer, David D; Melton, Phillip E PE; Mori, Trevor A TA; Snowden, Stuart G SG; van Mourik, Indra I; Vreugdenhil, Anita A; Wiegand, Susanna S; Mann, Jake P JP

Publication Date: 2022-08

Variant appearance in text: rs2642438

PubMed Link: 35411667

Variant Present in the following documents:

• Main text
• HEP4-6-1934.pdf
• HEP4-6-1934-s002.pdf

View BVdb publication page

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Activation of Liver mTORC1 Protects Against NASH via Dual Regulation of VLDL-TAG Secretion and De Novo Lipogenesis.

Cellular And Molecular Gastroenterology And Hepatology

Uehara, Kahealani K; Sostre-Colón, Jaimarie J; Gavin, Matthew M; Santoleri, Dominic D; Leonard, Kelly-Ann KA; Jacobs, René L RL; Titchenell, Paul M PM

Publication Date: 2022

Variant appearance in text: rs2642438

PubMed Link: 35240344

Variant Present in the following documents:

• Main text
• main.pdf

View BVdb publication page

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Identification of 90 NAFLD GWAS loci and establishment of NAFLD PRS and causal role of NAFLD in coronary artery disease.

Hgg Advances

Miao, Zong Z; Garske, Kristina M KM; Pan, David Z DZ; Koka, Amogha A; Kaminska, Dorota D; Männistö, Ville V; Sinsheimer, Janet S JS; Pihlajamäki, Jussi J; Pajukanta, Päivi P

Publication Date: 2022-01-13

Variant appearance in text: rs2642438

PubMed Link: 35047847

Variant Present in the following documents:

• Main text
• main.pdf
• mmc3.pdf

View BVdb publication page

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Machine learning enables new insights into genetic contributions to liver fat accumulation.

Cell Genomics

Haas, Mary E ME; Pirruccello, James P JP; Friedman, Samuel N SN; Wang, Minxian M; Emdin, Connor A CA; Ajmera, Veeral H VH; Simon, Tracey G TG; Homburger, Julian R JR; Guo, Xiuqing X; Budoff, Matthew M; Corey, Kathleen E KE; Zhou, Alicia Y AY; Philippakis, Anthony A; Ellinor, Patrick T PT; Loomba, Rohit R; Batra, Puneet P; Khera, Amit V AV

Publication Date: 2021-12-08

Variant appearance in text: MTARC1: T165A; rs2642438

PubMed Link: 34957434

Variant Present in the following documents:

• Main text
• main.pdf
• mmc1.pdf
• mmc3.pdf
• mmc2.pdf

View BVdb publication page

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Human Genetics to Identify Therapeutic Targets for NAFLD: Challenges and Opportunities.

Frontiers In Endocrinology

Du, Xiaomi X; DeForest, Natalie N; Majithia, Amit R AR

Publication Date: 2021

Variant appearance in text: rs2642438

PubMed Link: 34950105

Variant Present in the following documents:

• Main text
• fendo-12-777075.pdf

View BVdb publication page

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MARC1 p.A165T variant is associated with decreased markers of liver injury and enhanced antioxidant capacity in autoimmune hepatitis.

Scientific Reports

Janik, Maciej K MK; Smyk, Wiktor W; Kruk, Beata B; Szczepankiewicz, Benedykt B; Górnicka, Barbara B; Lebiedzińska-Arciszewska, Magdalena M; Potes, Yaiza Y; Simões, Inês C M ICM; Weber, Susanne N SN; Lammert, Frank F; Więckowski, Mariusz R MR; Milkiewicz, Piotr P; Krawczyk, Marcin M

Publication Date: 2021-12-23

Variant appearance in text: rs2642438

PubMed Link: 34949757

Variant Present in the following documents:

• Main text

View BVdb publication page

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MARC1 p.A165T variant is associated with decreased markers of liver injury and enhanced antioxidant capacity in autoimmune hepatitis.

Scientific Reports

Janik, Maciej K MK; Smyk, Wiktor W; Kruk, Beata B; Szczepankiewicz, Benedykt B; Górnicka, Barbara B; Lebiedzińska-Arciszewska, Magdalena M; Potes, Yaiza Y; Simões, Inês C M ICM; Weber, Susanne N SN; Lammert, Frank F; Więckowski, Mariusz R MR; Milkiewicz, Piotr P; Krawczyk, Marcin M

Publication Date: 2021-12-23

Variant appearance in text: rs2642438

PubMed Link: 34949757

Variant Present in the following documents:

• Main text

View BVdb publication page

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Multiomics Landscape Uncovers the Molecular Mechanism of the Malignant Evolution of Lung Adenocarcinoma Cells to Chronic Low Dose Cadmium Exposure.

Frontiers In Oncology

Dai, Shun-Dong SD; Wang, Shuang S; Qin, Ya-Nan YN; Zhu, Jin-Chao JC

Publication Date: 2021

Variant appearance in text: MARC1: T165A

PubMed Link: 34858801

Variant Present in the following documents:

• Table_1.xls, sheet 1

View BVdb publication page

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Electronic health record-based genome-wide meta-analysis provides insights on the genetic architecture of non-alcoholic fatty liver disease.

Cell Reports. Medicine

Ghodsian, Nooshin N; Abner, Erik E; Emdin, Connor A CA; Gobeil, Émilie É; Taba, Nele N; Haas, Mary E ME; Perrot, Nicolas N; Manikpurage, Hasanga D HD; Gagnon, Éloi É; Bourgault, Jérôme J; St-Amand, Alexis A; Couture, Christian C; Mitchell, Patricia L PL; Bossé, Yohan Y; Mathieu, Patrick P; Vohl, Marie-Claude MC; Tchernof, André A; Thériault, Sébastien S; Khera, Amit V AV; Esko, Tõnu T; Arsenault, Benoit J BJ

Publication Date: 2021-11-16

Variant appearance in text: rs2642438

PubMed Link: 34841290

Variant Present in the following documents:

• Main text
• main.pdf
• mmc7.pdf

View BVdb publication page

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Distinct contributions of metabolic dysfunction and genetic risk factors in the pathogenesis of non-alcoholic fatty liver disease.

Journal Of Hepatology

Luukkonen, Panu K PK; Qadri, Sami S; Ahlholm, Noora N; Porthan, Kimmo K; Männistö, Ville V; Sammalkorpi, Henna H; Penttilä, Anne K AK; Hakkarainen, Antti A; Lehtimäki, Tiina E TE; Gaggini, Melania M; Gastaldelli, Amalia A; Ala-Korpela, Mika M; Orho-Melander, Marju M; Arola, Johanna J; Juuti, Anne A; Pihlajamäki, Jussi J; Hodson, Leanne L; Yki-Järvinen, Hannele H

Publication Date: 2022-03

Variant appearance in text: rs2642438

PubMed Link: 34710482

Variant Present in the following documents:

• Main text
• mmc1.pdf

View BVdb publication page

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Genetics Is of the Essence to Face NAFLD.

Biomedicines

Meroni, Marica M; Longo, Miriam M; Tria, Giada G; Dongiovanni, Paola P

Publication Date: 2021-09-30

Variant appearance in text: rs2642438

PubMed Link: 34680476

Variant Present in the following documents:

• Main text
• biomedicines-09-01359.pdf

View BVdb publication page

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